V12E (p.Val12Glu) variant of BAG3 (O95817)
V12E (p.Val12Glu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V12E (p.Val12Glu) variant details
- p.Val12Glu
- gnomAD 10-119651710-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.539
- Literature evidence available